Molecular autopsy
Gene: GM2A

GM2A (GM2 ganglioside activator)
EnsemblGeneIds (GRCh38): ENSG00000196743
EnsemblGeneIds (GRCh37): ENSG00000196743
OMIM: 613109, Gene2Phenotype
GM2A is in 9 panels

0 reviews

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

GM2-gangliosidosis, AB variant, 272750

OMIM

613109

Clinvar variants

Variants in GM2A

Penetrance

None

Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: GM2A was added gene: GM2A was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal